Sugi Variant

Sugi Variant/TBC1D23

TBC1D23 — 151 ClinVar variants

All ClinVar germline TBC1D23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 17 Benign · 3 Benign/Likely benign · 16 Likely benign · 98 Uncertain significance

Full TBC1D23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 90

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 76

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

The independent predictors disagree with each other — read with care.

All TBC1D23 variants

Pathogenic 9

  • c.1092+2T>A Single submitter pontocerebellar hypoplasia, type 11
  • c.1687+1G>C Single submitter pontocerebellar hypoplasia, type 11
  • p.Gln223Ter Single submitter pontocerebellar hypoplasia, type 11
  • p.Gln248fs Single submitter pontocerebellar hypoplasia, type 11
  • p.Val340fs Single submitter pontocerebellar hypoplasia, type 11
  • c.1687+1G>A No assertion criteria pontocerebellar hypoplasia, type 11
  • c.1687+2T>G No assertion criteria pontocerebellar hypoplasia, type 11
  • p.Ile509fs No assertion criteria pontocerebellar hypoplasia, type 11
  • p.Val492fs No assertion criteria pontocerebellar hypoplasia, type 11

Pathogenic/Likely pathogenic 2

  • p.Cys317fs Multiple submitters pontocerebellar hypoplasia, type 11
  • p.Phe205fs Multiple submitters pontocerebellar hypoplasia, type 11

Likely pathogenic 5

Conflicting classifications of pathogenicity 1

Benign 17

Benign/Likely benign 3

Likely benign 16

Uncertain significance 98